14 research outputs found

    Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

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    Migraine is a debilitating neurological disorder affecting around one in seven people worldwide, but its molecular mechanisms remain poorly understood. There is some debate about whether migraine is a disease of vascular dysfunction or a result of neuronal dysfunction with secondary vascular changes. Genome-wide association (GWA) studies have thus far identified 13 independent loci associated with migraine. To identify new susceptibility loci, we carried out a genetic study of migraine on 59,674 affected subjects and 316,078 controls from 22 GWA studies. We identified 44 independent single-nucleotide polymorphisms (SNPs) significantly associated with migraine risk (P < 5 × 10−8) that mapped to 38 distinct genomic loci, including 28 loci not previously reported and a locus that to our knowledge is the first to be identified on chromosome X. In subsequent computational analyses, the identified loci showed enrichment for genes expressed in vascular and smooth muscle tissues, consistent with a predominant theory of migraine that highlights vascular etiologies

    Adaptação transcultural para o Brasil do instrumento Caregiver Abuse Screen (CASE) para detecção de violĂȘncia de cuidadores contra idosos Cross-cultural adaptation to Brazil of the instrument Caregiver Abuse Screen (CASE) for detection of abuse of the elderly by caregivers

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    Este artigo descreve a primeira parte da adaptação transcultural da versĂŁo em portuguĂȘs, para o Brasil, do Caregiver Abuse Screen (CASE), um instrumento simplificado para suspeição de violĂȘncia contra o idoso. O CASE foi originalmente desenvolvido no CanadĂĄ e utilizado para rastrear violĂȘncias em idosos entrevistando seus cuidadores. O processo de avaliação de equivalĂȘncias conceitual e de itens, que envolveu uma ampla e sistemĂĄtica revisĂŁo bibliogrĂĄfica, consistiu de uma discussĂŁo em grupo de expertos. A equivalĂȘncia semĂąntica envolveu duas traduçÔes e respectivas retraduçÔes em paralelo; uma avaliação de equivalĂȘncia de significados referencial e geral entre o CASE original e as versĂ”es em portuguĂȘs; discussĂ”es posteriores com o grupo de expertos para definir a versĂŁo final; e um prĂ©-teste com quarenta cuidadores de pacientes idosos em um serviço de atendimento ambulatorial de geriatria. Foi possĂ­vel estabelecer uma versĂŁo em portuguĂȘs para o Brasil com boa qualidade de equivalĂȘncia conceitual, de itens e semĂąntica. Embora os resultados aqui descritos sejam encorajadores, eles devem ser reavaliados Ă  luz de evidĂȘncias psicomĂ©tricas (equivalĂȘncia de mensuração) que oportunamente serĂŁo apresentadas por este grupo de estudo.<br>This first of two papers focuses on the first part in the cross-cultural adaptation of the Portuguese-language version of Caregiver Abuse Screen (CASE), a brief instrument for detecting domestic violence against the elderly. CASE was originally developed in Canada and used to screen violence against the elderly by interviewing their caregivers. Besides a broad literature review, the evaluation of conceptual and item equivalences involved expert discussion groups. Semantic equivalence included the following steps: two translations and respective back-translations; an evaluation of referential and general (connotative) equivalence between the original instrument and each version; further discussions with experts in order to define the final version; and pre-testing the latter in 40 caregivers of elderly subjects in an outpatient geriatric clinic. It was possible to establish high-quality conceptual, item, and semantic equivalence for the Portuguese-language version. Although the results shown here were encouraging, they should be reevaluated in light of a forthcoming psychometric analysis (measurement equivalence) to be performed by the research group
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